Neurodegenerative diseases: a rapid scoping review of biomarkers for personalized prevention

Abstract

Background/Objectives: One of the first steps of the PeRsOnalized Prevention roadmap for the future HEalThcare (PROPHET) project is to carry out several scoping reviews about research on biomarkers useful for personalized prevention -primary/secondary- of neurodegenerative diseases. Methods: A rapid scoping review was conducted (Feb-Jun 2023). Inclusion criteria were defined. Population: Adult general population (> 18 years), specific high-risk subgroups. Concept and context: Biomarkers that help to stratify the risk –either in primary or in secondary prevention– of amyotrophic lateral sclerosis, Parkinson disease, Alzheimer’s disease, frontotemporal dementia, vascular dementia, Lewy body disease and multiple sclerosis. We also included “cognitive decline” as a proxy of dementia. The literature available between 2020 and 2023 was reviewed using bibliographic bases, grey literature and expert consultation. Independent reviewers screened and extracted information from 10% of the papers, and the rest was screened by one reviewer –due to time constraints–. A graphical interactive map was created to visually identify the evidence gaps in the literature. Results: A total of 1,653 articles –after removing 395 duplicates– were obtained of which 28% (n = 460) were selected for the full-text phase. The most researched neurodegenerative disease was Alzheimer, followed by Parkinson, multiple sclerosis and amyotrophic lateral sclerosis. Regarding the type of biomarker, more than half of articles included genetic/epigenetic biomarkers, and one third integrated imaging techniques. Few articles used -omics-based biomarkers or utilized artificial intelligence and/or deep learning methods. The results were presented taking into account the general population versus the high-risk groups of population (smoking, alcohol consumption, diabetes, obesity, hypertension, hypercholesterolemia or dyslipidaemia) as well as the clinical utility of the biomarkers. Conclusions/Recommendations: In this scoping review we provide a general picture of the state of art in the use of biomarkers for neurodegenerative diseases, which will inform the future Strategic Research and Innovation Agenda (SRIA) for the European Union.